CELF6 (CUGBP Elav-like family member 6)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 60677
• Gene name: CUGBP Elav-like family member 6
• Gene symbol: CELF6
• Synonyms (NCBI Gene): BRUNOL6
• Chromosome: 15
• Chromosome location: 15q23
• Summary: Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mR

miRNA Show/Hide all (23)

miRTarBase ID	miRNA	Experiments	Reference
MIRT884207	hsa-miR-3151	CLIP-seq
MIRT884208	hsa-miR-3156-3p	CLIP-seq
MIRT884209	hsa-miR-342-5p	CLIP-seq
MIRT884210	hsa-miR-3692	CLIP-seq
MIRT884211	hsa-miR-4278	CLIP-seq
MIRT884212	hsa-miR-4301	CLIP-seq
MIRT884213	hsa-miR-4447	CLIP-seq
MIRT884214	hsa-miR-4472	CLIP-seq
MIRT884215	hsa-miR-4651	CLIP-seq
MIRT884216	hsa-miR-4664-5p	CLIP-seq
MIRT884217	hsa-miR-4716-3p	CLIP-seq
MIRT884218	hsa-miR-4738-3p	CLIP-seq
MIRT884219	hsa-miR-4794	CLIP-seq
MIRT884220	hsa-miR-491-5p	CLIP-seq
MIRT884221	hsa-miR-548an	CLIP-seq
MIRT884222	hsa-miR-548g	CLIP-seq
MIRT884223	hsa-miR-608	CLIP-seq
MIRT1962179	hsa-miR-331-3p	CLIP-seq
MIRT2446825	hsa-miR-127-5p	CLIP-seq
MIRT2446826	hsa-miR-1279	CLIP-seq
MIRT2446827	hsa-miR-1324	CLIP-seq
MIRT2446828	hsa-miR-4282	CLIP-seq
MIRT2446829	hsa-miR-513a-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IBA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IDA	14761971
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	NAS	14761971
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	14761971
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	14761971
GO:0006376	Process	MRNA splice site recognition	IBA
GO:0006397	Process	MRNA processing	IEA
GO:1990904	Component	Ribonucleoprotein complex	IBA

Other IDs

• MIM: 612681
• HGNC: 14059
• e!Ensembl: ENSG00000140488

Protein

• UniProt ID: Q96J87
• Protein name: CUGBP Elav-like family member 6 (CELF-6) (Bruno-like protein 6) (CUG-BP- and ETR-3-like factor 6) (RNA-binding protein BRUNOL-6)
• Protein function: RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activate
• PDB: 2DGQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00076	RRM_1	398 → 468	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	136 → 204	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	48 → 117	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed mainly in kidney, brain and testis and present in other tissues albeit at lower levels. Also expressed in fetal kidney. {ECO:0000269|PubMed:14761971}.
• Sequence:

  MAAAPGGSAQPAGPGPRLGFSTADSGVGMSGLNPGPAVPMKDHDAIKLFVGQIPRGLDEQ
  DLKPLFEEFGRIYELTVLKDRLTGLHKGCAFLTYCARDSALKAQSALHEQKTLPGMNRPI
  QVKPAASEGRGEDRKLFVGMLGKQQGEEDVRRLFQPFGHIEECTVLRSPDGTSKGCAFVK
  FGSQGEAQAAIRGLHGSRTMAGASSSLVVKLADTDRERALRRMQQMAGHLGAFHPAPLPL
  GACGAYTTAILQHQAALLAAAQGPGLGPVAAVAAQMQHVAAFSLVAAPLLPAAAANSPPG
  SGPGTLPGLPAPIGVNGFGPLTPQTNGQPGSDTLYNNGLSPYPAQSPGVADPLQQAYAGM
  HHYAAAYPSAYAPVSTAFPQQPSALPQQQREGPEGCNLFIYHLPQEFGDAELIQTFLPFG
  AVVSAKVFVDRATNQSKCFGFVSFDNPTSAQTAIQAMNGFQIGMKRLKVQLKRPKDANRP
  Y

• Sequence length: 481

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CELF6-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (11)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autistic Disorder	Autism	BEFREE	23407934, 31215739		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35910766	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28423658		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28423658		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37452042	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35910766	Associate	★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28423658		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	31534127		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	31534127	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31534127		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28423658	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for CELF6.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to CELF6.